Early miscues cause late problems in model of Marfan syndrome

By studying mice, Johns Hopkins scientists have discovered that excessive activity of an important signaling protein, TGF-beta, likely underlies a variety of problems in Marfan syndrome, including the tendency to develop emphysema, they report in the March issue of Nature Genetics.

The results in mice dramatically improve understanding of TGF-beta's regulation and function and provide a completely new mechanism for changes seen in Marfan syndrome, say the researchers, offering the most feasible target yet for preventing the life-threatening problems that stem from the connective tissue disorder.

"TGF-beta pulls together what we know clinically about Marfan syndrome with what we know genetically," says study leader Hal Dietz, M.D., who directs the Smilow Center for Marfan Research at Johns Hopkins. "If our findings in mice are supported by clinical evidence of high TGF-beta activity in people with Marfan syndrome, blocking TGF-beta activity may be a reasonable approach to reduce or prevent many features of the syndrome."

In 1991, scientists tied Marfan syndrome to genetic mutations that create a non-functioning fibrillin-1 protein, which normally coats the elastic fibers that help give tissues form and strength. Without fibrillin-1, elastic fibers form, but they are more prone to breaking, explaining some problems seen in Marfan syndrome, including rupture of the aorta, which carries blood away from the heart.

Structural weakness has also been the primary explanation for emphysema, the gradual inflammation and destruction of the tiny air pockets in the lungs. However, the new research shows that not only is TGF-beta activity high, but blocking it during development can prevent lung damage in mice without fibrillin-1, says first author Enid Neptune, M.D., assistant professor in the division of pulmonary and critical care medicine at Johns Hopkins.

"In mice lacking fibrillin-1, excessive TGF-beta activity triggers developmental

Contact: Joanna Downer
Johns Hopkins Medical Institutions

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